Care for horses & livestock/farm animals
Care for cats, dogs & other companion animals
Related Terms: IL2RG, X-SCID, XSCID
Sample Types: Cheek brushes/swabs or Fresh EDTA blood
This type of test request requires a pre approval. Please email PennGen@vet.upenn.edu to get pre approval before taking any samples. If you don't get a pre approval your request will be cancelled.
12–16 weeks of age
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Clinical signs become apparent between 12 and 16 weeks of age when maternal immunity wanes. Clinical signs include a general failure to thrive, lack of palpable peripheral lymph nodes, dermatitis, vomiting, diarrhea, coughing, and weight loss. Affected dogs develop diseases caused by bacteria and viruses that are typically non-pathogenic in healthy animals. Affected dogs die by 4–5 months of age unless treated by bone marrow transplantation, gene therapy, or by providing a germ-free environment (“boy in the bubble”).
4 months in the absence of treatment.
Absence of all lymph nodes and thymus aplasia. The other histological findings depend on the types of infections.
IL2RG and NM_001003201.1:c.30_33delCCTC (Basset Hound)
IL2RG and NM_001003201.1:c.582_583insC (Cardigan Welsh Corgi)
Somberg RL, Pullen RP, Casal ML, Patterson DF, Felsburg PJ, Henthorn PS. A single nucleotide insertion in the canine interleukin-2 receptor gamma chain results in X-linked severe combined immunodeficiency disease. Vet Immunol Immunopathol. 1995 Aug;47(3-4):203-13. doi: 10.1016/0165-2427(94)05400-m. PMID: 8571541.
Henthorn PS, Somberg RL, Fimiani VM, Puck JM, Patterson DF, Felsburg PJ. IL-2R gamma gene microdeletion demonstrates that canine X-linked severe combined immunodeficiency is a homologue of the human disease. Genomics. 1994 Sep 1;23(1):69-74. doi: 10.1006/geno.1994.1460. PMID: 7829104.